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A Rare Case of Concurrent SNRPB Mutation and 22q11.2 Microduplication in a Child With Cerebro-Costo-Mandibular Syndrome
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| Published in: | Case Reports in Genetics |
|---|---|
| Format: | Online Article RSS Article |
| Published: |
2026
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| _version_ | 1868552982925148162 |
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| collection | WordPress RSS FRELIP Feed Integration |
| container_title | Case Reports in Genetics |
| description | |
| discipline_display | Genetics |
| discipline_facet | Genetics |
| format | Online Article RSS Article |
| genre | Journal Article |
| id | rss_article:70852 |
| institution | FRELIP |
| journal_source_facet | Case Reports in Genetics |
| last_indexed | 2026-06-20T21:29:44.956Z |
| publishDate | 2026 |
| publishDateSort | 2026 |
| record_format | rss_article |
| spellingShingle | A Rare Case of Concurrent SNRPB Mutation and 22q11.2 Microduplication in a Child With Cerebro-Costo-Mandibular Syndrome Genetics General Genetics |
| sub_discipline_display | General |
| sub_discipline_facet | General |
| subject_display | Genetics General Genetics |
| subject_facet | Genetics General Genetics |
| title | A Rare Case of Concurrent SNRPB Mutation and 22q11.2 Microduplication in a Child With Cerebro-Costo-Mandibular Syndrome |
| title_alt | Un caso raro de mutación concurrente de SNRPB y microduplicación 22q11.2 en un niño con síndrome cerebro-costal-mandibular Un cas rare de mutation SNRPB et microduplication 22q11.2 concomitantes chez un enfant atteint du syndrome cérébro-costo-mandibulaire Um Caso Raro de Mutação SNRPB e Microduplicação 22q11.2 Concomitantes em uma Criança com Síndrome Cérebro-Costo-Mandibular |
| title_auth | A Rare Case of Concurrent SNRPB Mutation and 22q11.2 Microduplication in a Child With Cerebro-Costo-Mandibular Syndrome |
| title_es_txt | Un caso raro de mutación concurrente de SNRPB y microduplicación 22q11.2 en un niño con síndrome cerebro-costal-mandibular |
| title_fr_txt | Un cas rare de mutation SNRPB et microduplication 22q11.2 concomitantes chez un enfant atteint du syndrome cérébro-costo-mandibulaire |
| title_full | A Rare Case of Concurrent SNRPB Mutation and 22q11.2 Microduplication in a Child With Cerebro-Costo-Mandibular Syndrome |
| title_fullStr | A Rare Case of Concurrent SNRPB Mutation and 22q11.2 Microduplication in a Child With Cerebro-Costo-Mandibular Syndrome |
| title_full_unstemmed | A Rare Case of Concurrent SNRPB Mutation and 22q11.2 Microduplication in a Child With Cerebro-Costo-Mandibular Syndrome |
| title_pt_txt | Um Caso Raro de Mutação SNRPB e Microduplicação 22q11.2 Concomitantes em uma Criança com Síndrome Cérebro-Costo-Mandibular |
| title_short | A Rare Case of Concurrent SNRPB Mutation and 22q11.2 Microduplication in a Child With Cerebro-Costo-Mandibular Syndrome |
| title_sort | a rare case of concurrent snrpb mutation and 22q11.2 microduplication in a child with cerebro-costo-mandibular syndrome |
| topic | Genetics General Genetics |
| url | https://www.hindawi.com/journals/crig/2026/4169170/ |